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"NP_001276949.1:p.Ser892_Thr1044delinsAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682684" }, { "@id": "http://reg.genome.network/allele/PA2826772874", "coordinates": [ { "allele": "A", "end": 1597, "referenceAllele": "C", "start": 1596 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_001290021.2:c.1250C>A" ], "proteinEffect": { "hgvs": "NP_001276950.1:p.Ser417Ter", "hgvsWellDefined": "NP_001276950.1:p.Ser417_Ile612delinsAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysThrGluSerArgHisValAlaArgLeuGluCysSerAspAsnAspLeuGlySerLeuGlnProProProProGlyPheLysArgPheSerCysLeuSerLeuLeuSerSerTrpAspTyrSerPheTyrTrpIleTrpLeuGlyProLeuThrArgIleSerArgLysLeuGlnLeuValValTyrProIleSerAlaGlyTrpLeuLeuLeuGlnArgArgGlnAspThrLeuGluIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682685" }, { "@id": "http://reg.genome.network/allele/PA2826944040", "coordinates": [ { "allele": "A", "end": 1938, "referenceAllele": "C", "start": 1937 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_001312689.2:c.1751C>A" ], "proteinEffect": { "hgvs": "NP_001299618.1:p.Ser584Ter", "hgvsWellDefined": "NP_001299618.1:p.Ser584_Thr736delinsAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684094" }, { "@id": "http://reg.genome.network/allele/PA214700", "coordinates": [ { "allele": "A", "end": 2799, "referenceAllele": "C", "start": 2798 } ], "gene": "http://reg.genome.network/gene/GN025583", "geneNCBI_id": 55130, "geneSymbol": "ODAD2", "hgvs": [ "NM_018076.5:c.2675C>A" ], "proteinEffect": { "hgvs": "NP_060546.2:p.Ser892Ter", "hgvsWellDefined": "NP_060546.2:p.Ser892_Thr1044delinsAspAsnLysGluValLeuAlaSerValCysAlaAlaIleThrAsnIleAlaLysAspGlnGluAsnLeuAlaValIleThrAspHisGlyValValProLeuLeuSerLysLeuAlaAsnThrAsnAsnAsnLysLeuArgHisHisLeuAlaGluAlaIleSerArgCysCysMetTrpGlyArgAsnArgValAlaPheGlyGluHisLysAlaValAlaProLeuValArgTyrLeuLysSerAsnAspThrAsnValHisArgAlaThrAlaGlnAlaLeuTyrGlnLeuSerGluAspAlaAspAsnCysIleThrMetHisGluAsnGlyAlaValLysLeuLeuLeuAspMetValGlySerProAspGlnAspLeuGlnGluAlaAlaAlaGlyCysIleSerAsnIleArgArgLeuAlaLeuAlaThrGluLysAlaArgTyrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697949", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000305242.10:c.2675C>A" }, "RefSeq": { "hgvs": "NM_018076.5:c.2675C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000306410.5:p.Ser892Ter" }, "RefSeq": { "hgvs": "NP_060546.2:p.Ser892Ter" } } } } ], "type": "nucleotide" }